DISEASES

Disease-gene associations mined from literature

Human genes for aniridia

Aniridia [DOID:12271]

Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals is associated with kidney nephroblastoma (Wilms tumor), Genitourinary anomalies or with mental retardation and cerebellar ataxia (Gillespie syndrome), resulting in the WAGR syndrome.

Synonyms:  aniridia,  DOID:12271,  Aniridia (disorder),  Aplasia of iris (disorder),  Aniridia disorder ...